Creutzfeldt-Jakob disease

Wednesday, June 10, 2015 – 5:45pm
Mutation that protects against incurable brain diseases found

After researching the Fore people of Papua New Guinea, scientists have identified a mutation in the gene for the prion protein that protects against Creutzfeldt-Jakob disease and other similar brain diseases, The Independent reports. The protein is known to be connected with other brain diseases such as “mad cow disease” and kuru, which at one time was common among the Fore as a result of their cannibalistic practices. The discovery could provide clues that aid the development of new methods for treating these and other similar brain diseases, the researchers say.

“Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide; in the United States there are about 300 cases per year. CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 90 percent of individuals die within 1 year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.”

“CJD is characterized by rapidly progressive dementia. Initially, individuals experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the disease also may experience insomnia, depression, or unusual sensations. CJD does not cause a fever or other flu-like symptoms. As the illness progresses, mental impairment becomes severe. Individuals often develop involuntary muscle jerks called myoclonus, and they may go blind. They eventually lose the ability to move and speak and enter a coma. Pneumonia and other infections often occur in these individuals and can lead to death.” [National Institute of Health]